Laboratory Issues

As noted above, when this test is being performed late in pregnancy to distinguish between thanatophoric dysplasia and achondroplasia, a screen for achondroplasia mutations is performed first (if the methodology is by restriction enzyme analysis) because 99% of cases are caused by only two mutations.

Acknowledgments

The author thanks Lisa Graham and Leo Dimnik for the results shown in the figures and Jennifer Gerritsen and Karen McElligott for helpful comments on the manuscript.

References

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